4 hasil untuk "Ching-Ming Lin"

Bohring–Opitz syndrome: Unraveling neonatal hypoglycemia and early detection through whole exome sequencing

Ching-Ming Lin; Chien-Ming Lin; Sheng-Yuan Ho

Pediatrics and Neonatology, Vol. 65 No. 6 · 2024 · Inggris · DOAJ Scopus

Moyamoya disease caused frequent transient ischemic attack and focal epilepsy in a Taiwanese child: A case report

Ching-Ming Lin; Yu-Pang Lin; Chih-Fen Hu

Tungs’ Medical Journal, Vol. 17 No. 3 · 2023 · Inggris · DOAJ

We report a case of a 4-year-old boy with a history of global developmental delay presenting with recurrent sudden onset of weakness and spontaneous recovery and refractory focal seizures. The findings of his brain magnetic resonance imaging revealed that the underlying cause of his unexplained…

Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding ERCC6 Gene in a Taiwanese Boy with Cockayne Syndrome

Ching-Ming Lin; Jay-How Yang; Hwei-Jen Lee dkk.

Life, Vol. 11 No. 11 · 2021 · Inggris · DOAJ Scopus

Background: Cockayne syndrome (CS) is a rare form of dwarfism that is characterized by progressive premature aging. CS is typically caused by mutations in the excision repair cross-complementing protein group 6 (ERCC6) gene that encodes the CS group B (CSB) protein. Using whole exome sequencing, we…

Dynamic Regulation of Ferroptosis in a Neonatal Rat Model of Postnatal Hypoxia-Induced Acute Kidney Injury

Tzu-Hao Liu; Bo-Hau Chen; Guan-Hong Lin dkk.

Antioxidants, Vol. 15 No. 5 · 2026 · Inggris · DOAJ Scopus

Hypoxia during the postnatal period represents a significant risk factor for renal injury in neonates, yet the molecular mechanisms linking oxygen deprivation to kidney damage remain unclear. In this study, we explored whether ferroptosis serves as a key mediator in hypoxia-induced acute kidney…